Laminopathies
Evidence-based neurology checklist on laminopathies: Genetics These are caused by mutations in the LMNA genes The genes encode the nuclear envelope proteins Lamin A and C Muscular dystrophy presentations Other neurological presentations Cardiac presentation Dermatological presentations Other…
Genetics
- These are caused by mutations in the LMNA genes
- The genes encode the nuclear envelope proteins Lamin A and C
Muscular dystrophy presentations
Other neurological presentations
Cardiac presentation
Dermatological presentations
Other presentations
References
- Rankin J, Ellard S. The laminopathies: a clinical review. Clin Genet 2006; 70:261-274.
- Worman HJ, Bonne G. "Laminopathies:" a wide spectrum of human diseases. Exp Cell Res 2007; 313: 2121-2133.
- Maggi L, D'Amico A, Pini A, et al. LMNA-associated myopathies: the Italian experience in a large cohort of patients. Neurology 2014; 83:1634-1644.
- Evangelisti C, Rusciano I, Mongiorgi S, Ret al. The wide and growing range of lamin B-related diseases: from laminopathies to cancer. Cell Mol Life Sci 2022; 79:126.
- Bonne G, Mercuri E, Muchir A, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 2000; 48:170-180.
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